IL12RB1 R156H - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

IL12RB1 R156H

(IL12RB1 Arg156His)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr19:18188408: 12.5% (1340/10758) in EVS
  • T @ chr19:18049407: 10.2% (13/128) in GET-Evidence
  • Frequency shown in summary reports: 12.5% (1340/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr19:18188408

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr19:18188408

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr19:18188408

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr19:18188408

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr19:18188408

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom T @ chr19:18188408

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr19:18188408

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr19:18188408

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr19:18188408

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr19:18188408

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr19:18188408

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr19:18188408

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr19:18188408

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr19:18188408

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr19:18188408

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr19:18188408

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr19:18188408

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr19:18188408

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr19:18188408

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr19:18049408

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr19:18049408

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr19:18049408

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr19:18049408

 

Other external references
 

    dbSNP
  • rs11575926
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.029 (benign)
    Web search results (25 hits -- see all)
  • Molecular complementation of IL-12Rb1 deficiency reveals ...
    Patients with mutations in IL12RB1, the gene encoding IL-12Rb1, suffer from combined IL-12R/IL-23R ... with the following IL12RB1 variants: (A) S74R, (B) L77P, (C) R156H, ...
    hmg.oxfordjournals.org/cgi/reprint/14/24/3847.pdf
  • Molecular complementation of IL-12R{beta}1 deficiency reveals ...
    Patients with mutations in IL12RB1, the gene encoding IL-12Rß1, suffer from ... a quarter of the mutations in IL12RB1 described are missense mutations, of which ...
    hmg.oxfordjournals.org/cgi/content/full/14/24/3847
  • Genetic variations in the interleukin-12/interleukin-23 ...
    In addition, a number of coding IL12RB1 polymorphisms have been reported. ... as novel coding variations that we have identified at position S74R and R156H. ...
    www.ncbi.nlm.nih.gov/pubmed/12671732
  • Salmonella
    Several mutations in IL12RB1 with deleterious effects on human IL-12R function have been identified, ... coding variations that we have identified at position S74R and R156H. ...
    www.bionewsonline.com/x/1/salmonella_d.htm
  • Human Genetics of Infectious Diseases:
    R156H (467G>A) Q214R (641A>G) M365T (1094T>C) +34C>T. 5' 3' G378R ... IL12RB1. Association with the two promoter polymorphisms in strong LD. especially for -2C>T ...
    gdr.statsante.fr/exposes_2007/Abel_GDR2007.ppt
  • Prédisposition Génétique aux maladies infectieuses chez l'homme;
    R156H (467G>A) Q214R (641A>G) M365T (1094T>C) +34C>T. 5' 3' G378R ... IL12RB1. TUBERCULOSIS AND IL12RB1. Association with two promoter polymorphisms in strong LD ...
    infectiologie.com/site/.../genetique-Abel-DESCMIT0504.pdf
  • Type III 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... gruop(s) Added kinase family(s) Removed kinase gruop(s) Removed kinase family(s) ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeIII_95.txt
  • Type III 98%
    ... a colorectal cancer sample, somatic mutation 16959974 IL12RB1 P42701 Q214R 217 ... (dbSNP:rs4980) 10391210 KRT10 P13645 R156H 159 VAR_003827 AGC (0.945) CAMK ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeIII_98.txt
  • CiteULike: Molecular complementation of IL-12Rbeta1 ...
    Patients with mutations in IL12RB1, the gene encoding IL-12Rbeta1, suffer from ... Conversely, S74R, R156H, H438Y, A525T and G594E are fully functional ...
    www.citeulike.org/user/gabrielavictoria/article/4061604
  • Molecular complementation of IL-12Rbeta1 deficiency reveals ...
    Patients with mutations in IL12RB1, the gene encoding IL-12Rbeta1, suffer from ... Conversely, S74R, R156H, H438Y, A525T and G594E are fully functional IL-12Rbeta1 variants. ...
    www.medscape.com/medline/abstract/16293671?prt=true

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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